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The purpose of this study is to evaluate the therapeutic efficacy of inhaled recombinant human GM-CSF in individuals with hereditary Pulmonary Alveolar Proteinosis (PAP) due to partial dysfunction of the GM-CSF receptor.

inhaled recombinant human GM-CSF in individuals with hereditary Pulmonary Alveolar Proteinosis (PAP) due to partial dysfunction of the GM-CSF receptor

Drug: Leukine

Participants will receive inhaled rhGM-CSF (Sargramostim, Leukine) at the dose of 250 mcg one time per week for 12 weeks. Following an interim safety evaluation, participants may be entered into a second 12 week treatment period where participants will receive either 250 mcg or 500 mcg once weekly. At the end of any treatment period, participants will be followed for 12 additional weeks in the absence of inhaled rhGM-CSF to evaluate safety and efficacy.

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Ages Eligible for Study:

8 Years and older (Child, Adult, Older Adult)

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

No

Criteria

Inclusion Criteria:

A diagnosis of PAP caused by bi-allelic mutations in CSF2RA or CSF2RB associated with impaired GM-CSF-R-alpha or GM-CSF-R-beta function, respectively, resulting in reduced but non-zero GM-CSF signaling

Able and willing to give written informed consent / assent as necessary

Clinically stable

Exclusion Criteria:

Confirmed diagnosis of a disorder of surfactant production caused by bi-allelic mutations in ABCA3, SFTPB, or SFTPC

Confirmed diagnosis of autoimmune PAP caused by a high level of GM-CSF autoantibody

Confirmed diagnosis of secondary PAP caused by an underlying clinical disorder known to be associated with the development of PAP, e.g., inhalation of silica or titanium; myelodysplasia and others

Treatment with any investigational agent in the 3 months prior to enrollment

History of severe allergic or anaphylactic reactions to GM-CSF or other yeast-derived products

History of asthma or other reactive airways disease

Known active, viral, fungal, mycobacterial, or other infection

A serious medical condition which, in the opinion of the investigator or data and safety monitoring committee, would make the patient unsuitable for the study